ABSTRACT
Objective To investigate the relationship between polymorphisms of gene promoter region INS 5′UTR single nu-cleotide and type 2 diabetes and serum IAA-Ab levels.Methods By Sequenom MassArray SNP genotyping detection technology, INS 3 pyomter regime single nucleotide polymorphisms (rs689,rs714641 77 and rs3842738)of 497 patients in Chongqing with type 2 diabetes cases(treatment group)and 500 cases(control group)were genotyped and analyzed.IAA-Ab levels in diabetes patients was detected.Theχ2 test statistic was used to analyze the treatment group and control groups.The genotype frequency distribution of IAA-Ab-positive and negative groups SNP was analyzed by non-conditional logistic regression,adjusted for sex,age impact,cal-culated the odds ratio (OR)and 95 % confidence interval(CI ).The polymorphic loci with type 2 diabetes susceptibility and serum GAD-Ab levels was evaluated.Results The genotype frequency distribution of rs689AA,TT and AT was 58.75%,28.77% and 12.47%,respectively.The control group are 50.40%,35.60% and 14.00% respectively.The difference was statistically significant (χ2 =3.923,P <0.05).Compared with the genotype of AA,TT genotype can decrease risky of diabetes,with OR values 0.35(95%CI :0.18-1.06).There was significant difference of AA,TT,AT genotypes between IAA-Ab negative and IAA-Ab positive pa-tients (P < 0.05 ).Conclusion INS polymorphisms might be related to the risky of type 2 diabetes and serum IAA-Ab level in chinses population.
ABSTRACT
Fourteen neonatal diabetes mellitus(NDM)patients were recruited. 9 patients were treated with glyburide and the other 5 with insulin. ABCC8, KCNJ11, and INS genes were sequenced in 6 of them. Gene mutations were found in 2, 1, and 1 cases in these genes, respectively. One case with 6q24 hypomethylation and another without known mutation were also found. 8 out of 9 patients treated with glyburide reached euglycemia(88.9%). The other 5 patients with insulin therapy either died or lost contact. The results suggest that glyburide therapy is effective in neonatal diabetes mellitus, while insulin therapy may contribute to poor compliance.